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Variant : CV161014 (GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3) Homo sapiens

Symbol: CV161014
Name: GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3
Condition: See cases [RCV000139987]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADM   AKIP1   AMPD3   ANO9   AP2A2   APBB1   ARFIP2   ART1   ART5   ASCL2   ASCL3   B4GALNT4   BET1L   BGLT3   BRSK2   C11orf16   C11orf21   C11orf40   C11orf42   CARS1   CARS1-AS1   CASC23   CAVIN3   CCKBR   CD151   CD81   CD81-AS1   CDHR5   CDKN1C   CEND1   CHID1   CHRNA10   CNGA4   CRACR2B   CTSD   CYB5R2   DCHS1   DEAF1   DENND2B   DENND5A   DNHD1   DRD4   DUSP8   EIF3F   EPS8L2   FAM160A2   FAM99A   FAM99B   GATD1   H19   HBB   HBD   HBE1   HBG1   HBG2   HPX   HRAS   IFITM1   IFITM10   IFITM2   IFITM3   IFITM5   IGF2   IGF2-AS   ILK   INS   INS-IGF2   IPO7   IRF7   KCNQ1   KCNQ1-AS1   KCNQ1DN   KCNQ1OT1   KRTAP5-1   KRTAP5-2   KRTAP5-3   KRTAP5-4   KRTAP5-5   KRTAP5-6   KRTAP5-AS1   LINC01001   LINC01150   LINC01219   LINC02688   LINC02709   LINC02749   LMNTD2   LMNTD2-AS1   LMO1   LRRC56   LSP1   LYVE1   MIR210   MIR210HG   MIR302E   MIR4298   MIR4485   MIR4686   MIR4687   MIR483   MIR5691   MIR6743   MIR6744   MIR675   MIR7847   MMP26   MOB2   MRGPRE   MRGPRG   MRGPRG-AS1   MRPL17   MRPL23   MRPL23-AS1   MRVI1   MRVI1-AS1   MTRNR2L8   MUC2   MUC5AC   MUC5B   MUC5B-AS1   MUC6   NAP1L4   NLRP10   NLRP14   NLRP6   NRIP3   NUP98   ODF3   OLFML1   OR10A2   OR10A3   OR10A4   OR10A5   OR10A6   OR2AG1   OR2AG2   OR2D2   OR2D3   OR51A2   OR51A4   OR51A7   OR51B2   OR51B4   OR51B5   OR51B6   OR51D1   OR51E1   OR51E2   OR51F1   OR51F2   OR51G1   OR51G2   OR51H1   OR51I1   OR51I2   OR51J1   OR51L1   OR51M1   OR51Q1   OR51S1   OR51T1   OR51V1   OR52A1   OR52A5   OR52B2   OR52B4   OR52B6   OR52D1   OR52E1   OR52E2   OR52E4   OR52E5   OR52E6   OR52E8   OR52H1   OR52I1   OR52I2   OR52J3   OR52K1   OR52K2   OR52L1   OR52M1   OR52N1   OR52N2   OR52N4   OR52N5   OR52R1   OR52W1   OR52Z1   OR56A1   OR56A3   OR56A4   OR56A5   OR56B1   OR56B4   OR5P2   OR5P3   OR6A2   OSBPL5   OVCH2   PANO1   PGAP2   PGGHG   PHLDA2   PHRF1   PIDD1   PKP3   PNPLA2   POLR2L   PPFIBP2   PRR33   PSMD13   PTDSS2   RASSF7   RBMXL2   RHOG   RIC3   RIC3-DT   RIC8A   RNF141   RNH1   RPL27A   RPLP2   RRM1   RRP8   SBF2   SBF2-AS1   SCGB1C1   SCT   SCUBE2   SIGIRR   SIRT3   SLC22A18   SLC22A18AS   SLC25A22   SMPD1   SNORA23   SNORA3A   SNORA3B   SNORA52   SNORA54   SNORD131   STIM1   STK33   SWAP70   SYT8   SYT9   TAF10   TALDO1   TH   TIMM10B   TMEM41B   TMEM80   TMEM9B   TMEM9B-AS1   TNNI2   TNNT3   TOLLIP   TOLLIP-AS1   TPP1   TRIM21   TRIM22   TRIM3   TRIM34   TRIM5   TRIM6   TRIM66   TRIM68   TRL-CAA5-1   TRPM5   TSPAN32   TSPAN4   TSSC4   TUB   TUB-AS1   UBQLN3   UBQLNL   WEE1   ZNF143   ZNF195   ZNF214   ZNF215  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_61793)_(10727969_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381161,793 - 10,727,969CLINVAR
GRCh371161,793 - 10,749,516CLINVAR
Build 361151,793 - 10,706,092CLINVAR
Cytogenetic Map1111p15.5-15.4CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9487517
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.